X-Linked Ataxias
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Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-94-007-1333-8_103.pdf
Reference44 articles.
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2. Allikmets R, Raskind WH, Hutchinson A et al (1999) Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 8:743–749
3. Bacalman S, Farzin F, Bourgeois JA et al (2006) Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia. J Clin Psychiatry 67:87–94
4. Bachmann-Gagescu R, Merritt Ii JL, Hahn SH (2009) A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. J Inherit Metab Dis (in press)
5. Bekri S, Kispal G, Lange H, Fitzsimons E, Tolmie J, Lill R, Bishop DF (2000) Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood 96:3256–3264
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